Canonical Allele Identifier: CA3863429
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs538354100
gnomAD v2: 6-55113426-T-G
gnomAD v3: 6-55248628-T-G
gnomAD v4: 6-55248628-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55248628T>G , CM000668.2:g.55248628T>G GRCh38
NC_000006.11:g.55113426T>G , CM000668.1:g.55113426T>G GRCh37
NC_000006.10:g.55221385T>G NCBI36
NG_012447.1:g.79356T>G
NG_012447.2:g.147169T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.224-11T>G MANE Select ENSP00000359899.3:n.224-11T>G
ENST00000370862.3:c.224-11T>G ENSP00000359899.3:n.224-11T>G
ENST00000615358.4:c.224-11T>G ENSP00000477548.1:n.224-11T>G
NM_001526.3:c.224-11T>G NP_001517.2:n.224-11T>G
XM_011514542.1:c.29-11T>G XP_011512844.1:n.29-11T>G
NM_001526.4:c.224-11T>G NP_001517.2:n.224-11T>G
XM_017010798.1:c.224-11T>G XP_016866287.1:n.224-11T>G
NM_001384272.1:c.224-11T>G MANE Select NP_001371201.1:n.224-11T>G
NM_001526.5:c.224-11T>G NP_001517.2:n.224-11T>G